Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder.
A 2 1/2-year-old boy presented with an illness resembling glandular fever. He was found to have T-cell deficiency with lack of red and white cell purine nucleoside phosphorylase enzyme activity. A spastic tetraparesis was noted. The patient subsequently died of a malignant lymphoma of the B-immunoblastic type.
D001402:B-Lymphocytes / Q000276:immunology; D002675:Child, Preschool; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology / Q000235:genetics; D008223:Lymphoma / Q000201:enzymology*; D008297:Male; D010375:Pedigree; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics; D013601:T-Lymphocytes / Q000276:immunology
D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase